Abstract
Screening of the adenosine triphosphate binding cassette transporter protein subfamily C member 6 gene (ABCC6) in pseudoxanthoma elasticum (PXE) revealed a mutation detection rate of approximately 87%. Although 25% of the unidentified disease alleles underlie deletions/insertions, there remain several PXE patients with no clear genotype. The recent identification of PXE-related diseases and the high intra-familiar and inter-individual clinical variability of PXE led to the assumption that secondary genetic co-factors exist. Here, we summarize current knowledge of the genetics underlying PXE and PXE-related disorders based on human and animal studies. Furthermore, we discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification.
Highlights
Mutations in ABCC6, a gene encoding for the ABC transporter protein 6 of subfamily C, formerly known as multidrug resistanceassociated protein 6 (MRP6), are the cause of pseudoxanthoma elasticum (PXE; Kool et al, 1999; Bergen et al, 2000; Le Saux et al, 2000; Ringpfeil et al, 2000; Miksch et al, 2005; Schulz et al, 2006)
We discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification
We summarize the role of ABCC6 mutations as cause of PXE, and discuss the current knowledge of genetic cofactors and genetic interactions for PXE and related disorders
Summary
Mutations in ABCC6, a gene encoding for the ABC transporter protein 6 of subfamily C, formerly known as multidrug resistanceassociated protein 6 (MRP6), are the cause of pseudoxanthoma elasticum (PXE; Kool et al, 1999; Bergen et al, 2000; Le Saux et al, 2000; Ringpfeil et al, 2000; Miksch et al, 2005; Schulz et al, 2006). We discuss the role of genetic interactions and modifier genes in PXE and PXE-related diseases characterized by soft tissue calcification. GENETIC INTERACTIONS The recent identification of inherited disorders related to PXE and characterized by soft tissue calcification suggests multiple genetic factors.
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